@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_head { this: np:hasAssertion dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_assertion; np:hasProvenance dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_provenance; np:hasPublicationInfo dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_publicationInfo; a np:Nanopublication . dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_assertion a np:Assertion . dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_provenance a np:Provenance . dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_publicationInfo a np:PublicationInfo . } dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_assertion { miriam-gene:19 a ncit:C16612 . lld:C0003850 a ncit:C7057 . dgn-gda:DGN1a4f020204254d29acbb32ca0a1fafe7 sio:SIO_000628 miriam-gene:19, lld:C0003850; a sio:SIO_001122 . } dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_provenance { dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_assertion dcterms:description "[We compared the consequences of an ABCA1 mutation that produced an apparent lack of atherosclerosis (Tangier family 1, N935S) with an ABCA1 mutation with functional ABCA1 knockout that was associated with severe atherosclerosis (Tangier family 2, Leu(548):Leu(575)-End), using primary and telomerase-immortalized fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:24196952; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1125462.RAUzlKu0wkaf2A__0RIziTA_NjNm7IJu2V2EnQeM6dWUI130_publicationInfo { this: dcterms:created "2016-05-13T12:50:16+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }